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Q9HBZ2 (ARNT2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 130. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Aryl hydrocarbon receptor nuclear translocator 2

Short name=ARNT protein 2
Alternative name(s):
Class E basic helix-loop-helix protein 1
Short name=bHLHe1
Gene names
Name:ARNT2
Synonyms:BHLHE1, KIAA0307
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length717 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Specifically recognizes the xenobiotic response element (XRE).

Subunit structure

Efficient DNA binding requires dimerization with another bHLH protein. Heterodimer with the aryl hydrocarbon receptor (AHR) or the SIM1 protein. Interacts with TACC3 By similarity.

Subcellular location

Nucleus Potential.

Sequence similarities

Contains 1 bHLH (basic helix-loop-helix) domain.

Contains 1 PAC (PAS-associated C-terminal) domain.

Contains 2 PAS (PER-ARNT-SIM) domains.

Sequence caution

The sequence AAH36099.1 differs from that shown. Reason: Probable cloning artifact.

The sequence BAA20766.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainRepeat
   LigandDNA-binding
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcentral nervous system development

Inferred from sequence or structural similarity. Source: UniProtKB

in utero embryonic development

Inferred from sequence or structural similarity. Source: UniProtKB

negative regulation of apoptotic process

Inferred from electronic annotation. Source: Ensembl

positive regulation of cell proliferation

Inferred from electronic annotation. Source: Ensembl

positive regulation of transcription from RNA polymerase II promoter

Inferred from electronic annotation. Source: Ensembl

positive regulation of transcription, DNA-templated

Inferred from sequence or structural similarity. Source: UniProtKB

regulation of transcription, DNA-templated

Inferred from direct assay PubMed 11782478. Source: MGI

response to estradiol

Inferred from electronic annotation. Source: Ensembl

response to hypoxia

Inferred from direct assay PubMed 12239177. Source: UniProtKB

transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentcytoplasm

Inferred from electronic annotation. Source: InterPro

nucleus

Inferred from direct assay PubMed 12239177. Source: UniProtKB

transcription factor complex

Inferred from electronic annotation. Source: Ensembl

   Molecular_functionDNA binding

Inferred from electronic annotation. Source: UniProtKB-KW

aryl hydrocarbon receptor binding

Inferred from sequence or structural similarity. Source: UniProtKB

protein heterodimerization activity

Inferred from physical interaction PubMed 12239177. Source: UniProtKB

sequence-specific DNA binding transcription factor activity

Inferred from sequence or structural similarity. Source: UniProtKB

signal transducer activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9HBZ2-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q9HBZ2-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-11: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 717717Aryl hydrocarbon receptor nuclear translocator 2
PRO_0000127122

Regions

Domain63 – 11654bHLH
Domain134 – 20976PAS 1
Domain323 – 39371PAS 2
Domain398 – 44144PAC
Compositional bias73 – 764Poly-Arg
Compositional bias440 – 4456Poly-Gln
Compositional bias552 – 5554Poly-Ser

Natural variations

Alternative sequence1 – 1111Missing in isoform 2.
VSP_022687
Natural variant6791G → S. Ref.2
Corresponds to variant rs4072568 [ dbSNP | Ensembl ].
VAR_049538

Experimental info

Sequence conflict281A → V in BX647212. Ref.4
Sequence conflict751R → K in BAA20766. Ref.2
Sequence conflict5551S → P in BX647212. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified February 6, 2007. Version 2.
Checksum: AC7524E97F617252

FASTA71778,691
        10         20         30         40         50         60 
MATPAAVNPP EMASDIPGSV TLPVAPMAAT GQVRMAGAMP ARGGKRRSGM DFDDEDGEGP 

        70         80         90        100        110        120 
SKFSRENHSE IERRRRNKMT QYITELSDMV PTCSALARKP DKLTILRMAV SHMKSMRGTG 

       130        140        150        160        170        180 
NKSTDGAYKP SFLTEQELKH LILEAADGFL FVVAAETGRV IYVSDSVTPV LNQPQSEWFG 

       190        200        210        220        230        240 
STLYEQVHPD DVEKLREQLC TSENSMTGRI LDLKTGTVKK EGQQSSMRMC MGSRRSFICR 

       250        260        270        280        290        300 
MRCGNAPLDH LPLNRITTMR KRFRNGLGPV KEGEAQYAVV HCTGYIKAWP PAGMTIPEED 

       310        320        330        340        350        360 
ADVGQGSKYC LVAIGRLQVT SSPVCMDMNG MSVPTEFLSR HNSDGIITFV DPRCISVIGY 

       370        380        390        400        410        420 
QPQDLLGKDI LEFCHPEDQS HLRESFQQVV KLKGQVLSVM YRFRTKNREW MLIRTSSFTF 

       430        440        450        460        470        480 
QNPYSDEIEY IICTNTNVKQ LQQQQAELEV HQRDGLSSYD LSQVPVPNLP AGVHEAGKSV 

       490        500        510        520        530        540 
EKADAIFSQE RDPRFAEMFA GISASEKKMM SSASAAGTQQ IYSQGSPFPS GHSGKAFSSS 

       550        560        570        580        590        600 
VVHVPGVNDI QSSSSTGQNM SQISRQLNQS QVAWTGSRPP FPGQQIPSQS SKTQSSPFGI 

       610        620        630        640        650        660 
GTSHTYPADP SSYSPLSSPA TSSPSGNAYS SLANRTPGFA ESGQSSGQFQ GRPSEVWSQW 

       670        680        690        700        710 
QSQHHGQQSG EQHSHQQPGQ TEVFQDMLPM PGDPTQGTGN YNIEDFADLG MFPPFSE 

« Hide

Isoform 2 [UniParc].

Checksum: 2187A3C603EC7D39
Show »

FASTA70677,612

References

« Hide 'large scale' references
[1]"Aryl hydrocarbon receptor nuclear translocator 2 (ARNT2): structure, gene mapping, polymorphisms, and candidate evaluation for human orofacial clefts."
Barrow L.L., Wines M.E., Romitti P.A., Holdener B.C., Murray J.C.
Teratology 66:85-90(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]"Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."
Nagase T., Ishikawa K., Nakajima D., Ohira M., Seki N., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
DNA Res. 4:141-150(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT SER-679.
Tissue: Brain.
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Hippocampus.
[4]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Amygdala.
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-694 (ISOFORM 1).
Tissue: Brain.
[7]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF185610 expand/collapse EMBL AC list , AF185593, AF185594, AF185595, AF185596, AF185597, AF185598, AF185599, AF185600, AF185601, AF185602, AF185603, AF185604, AF185605, AF185606, AF185607, AF185608, AF185609 Genomic DNA. Translation: AAG15310.1.
AB002305 mRNA. Translation: BAA20766.2. Different initiation.
AK295763 mRNA. Translation: BAG58589.1.
BX647212 mRNA. No translation available.
CH471136 Genomic DNA. Translation: EAW99114.1.
BC036099 mRNA. Translation: AAH36099.1. Sequence problems.
RefSeqNP_055677.3. NM_014862.3.
UniGeneHs.459070.

3D structure databases

ProteinModelPortalQ9HBZ2.
SMRQ9HBZ2. Positions 62-439.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid115244. 8 interactions.
IntActQ9HBZ2. 4 interactions.
MINTMINT-2867815.
STRING9606.ENSP00000307479.

PTM databases

PhosphoSiteQ9HBZ2.

Polymorphism databases

DMDM125987793.

Proteomic databases

PaxDbQ9HBZ2.
PRIDEQ9HBZ2.

Protocols and materials databases

DNASU9915.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000303329; ENSP00000307479; ENSG00000172379. [Q9HBZ2-1]
ENST00000527771; ENSP00000453792; ENSG00000172379. [Q9HBZ2-2]
ENST00000533983; ENSP00000453651; ENSG00000172379. [Q9HBZ2-2]
GeneID9915.
KEGGhsa:9915.
UCSCuc002bfr.3. human. [Q9HBZ2-1]

Organism-specific databases

CTD9915.
GeneCardsGC15P080696.
H-InvDBHIX0012493.
HGNCHGNC:16876. ARNT2.
HPACAB005081.
HPA001056.
MIM606036. gene.
neXtProtNX_Q9HBZ2.
Orphanet370006. Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies.
PharmGKBPA24995.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG293303.
HOGENOMHOG000234380.
HOVERGENHBG000164.
InParanoidQ9HBZ2.
KOK15589.
OMAVCMDMSG.
OrthoDBEOG7V1FQ8.
PhylomeDBQ9HBZ2.
TreeFamTF319983.

Gene expression databases

ArrayExpressQ9HBZ2.
BgeeQ9HBZ2.
CleanExHS_ARNT2.
GenevestigatorQ9HBZ2.

Family and domain databases

Gene3D4.10.280.10. 1 hit.
InterProIPR011598. bHLH_dom.
IPR001067. Nuc_translocat.
IPR001610. PAC.
IPR000014. PAS.
IPR013767. PAS_fold.
[Graphical view]
PfamPF00010. HLH. 1 hit.
PF00989. PAS. 1 hit.
[Graphical view]
PRINTSPR00785. NCTRNSLOCATR.
SMARTSM00353. HLH. 1 hit.
SM00086. PAC. 1 hit.
SM00091. PAS. 2 hits.
[Graphical view]
SUPFAMSSF47459. SSF47459. 1 hit.
SSF55785. SSF55785. 4 hits.
TIGRFAMsTIGR00229. sensory_box. 1 hit.
PROSITEPS50888. BHLH. 1 hit.
PS50112. PAS. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSARNT2. human.
GeneWikiARNT2.
GenomeRNAi9915.
NextBio37404.
PROQ9HBZ2.
SOURCESearch...

Entry information

Entry nameARNT2_HUMAN
AccessionPrimary (citable) accession number: Q9HBZ2
Secondary accession number(s): B4DIS7, O15024, Q8IYC2
Entry history
Integrated into UniProtKB/Swiss-Prot: October 18, 2001
Last sequence update: February 6, 2007
Last modified: April 16, 2014
This is version 130 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 15

Human chromosome 15: entries, gene names and cross-references to MIM